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Cantú syndrome with coexisting familial pituitary adenoma.
(2018-03)
CONTEXT: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations ...
Pituitary Carcinoma in a Patient with an SDHB Mutation.
(2017-12)
We present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma. She was initially treated for a glomus tumour with external ...
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
(2018-01-30)
The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants ...